ABOUT GAUCHER DISEASEÂ
Gaucher (pronounced: go-shay) disease is a rare genetic disease caused by the deficiency, absence or incomplete functioning of an enzyme called glucocerebrosidase.
Over time, this can result in the accumulation of a waste substance called glucocerebroside in cells, causing progressive damage to tissues and major organs including the spleen, liver and bones. Glucocerebroside is a fatty substance that is normally broken down in lysosomes, which are the part of a cell that breaks down various waste materials.1,2
How common is Gaucher Disease?
Gaucher disease is the most prevalent of the lysosomal storage disorders (LSD) and affects approximately 1 in 50,000 people in the general population. Gaucher disease is found most frequently in the Ashkenazi Jewish population, with a disease prevalence of 1:850.1,2
What are the symptoms of Gaucher disease?
Gaucher disease causes a build-up of lipids (fatty substances) in cells, resulting in progressive damage to tissues and major organs including the spleen, liver, bones and brain.1,2
Gaucher disease is different for everyone, with symptoms varying considerably from person to person. Some people experience severe symptoms in childhood, while some people have no symptoms or only mild symptoms and are diagnosed later in life.
How is Gaucher disease diagnosed?
Gaucher disease can now be diagnosed with a blood test to detect the enzyme activity level. Confirmation of a diagnosis can be achieved through genetic testing. Today, the diagnosis can be made primarily from a single blood test.2
European Gaucher Alliance (EGA)
The EGA is a pan-European umbrella group representing the interest of Gaucher Patients and those of non for profit Gaucher Patient Groups throughout Europe and elsewhere in the world. To learn more visit the European Gaucher Alliance website
National Gaucher Foundation, Inc. (NGF)
The NGF is the only independent, non-profit organization of its kind serving the Gaucher community in the US in finding physicians, treatment, financial assistance and information related to all aspects of Gaucher disease.ÂTo learn more visit the NGF website.